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Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
Stable Identifier
R-HSA-5619050
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) (Homo sapiens)
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The proteins responsible for the exchange of Cl- with HCO3- are members of the SLC4 (1-3) and SLC26 (3, 4, 6, 7 and 9) transporter families. SLC4A1 (Band 3, AE1, anion exchanger 1) was the first bicarbonate transporter gene to be cloned and sequenced. It is ubiquitous throughout vertebrates and in humans, is the major glycoprotein present on erythrocytes and the basolateral surfaces of kidney cells. Variations in erythroid SLC4A1 determine the Diego blood group system. Mutations in the erythrocyte form of SLC4A1 can cause hereditary spherocytosis type 4 (HSP4; MIM:612653), a disorder leading to haemolytic anaemia (HA). Some mutations in SLC4A1 can cause distal (type1) renal tubular acidosis (dRTA; MIM:179800) (an inability to acidify urine) and dRTA-HA (dRTA with hemolytic anemia) (MIM:611590) (Tanner 2002, Romero et al. 2013).
Literature References
PubMed ID
Title
Journal
Year
23506864
The SLC4 family of bicarbonate (HCO??) transporters
Parker, MD
,
Chen, AP
,
Romero, MF
,
Boron, WF
Mol. Aspects Med.
2013
11844997
Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders
Tanner, MJ
Curr. Opin. Hematol.
2002
Participants
Events
Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes)
(Homo sapiens)
Participates
as an event of
SLC transporter disorders (Homo sapiens)
Disease
Name
Identifier
Synonyms
hereditary spherocytosis
DOID:12971
Minkowski Chauffard syndrome, Congenital spherocytic hemolytic anemia, spherocytic anemia
renal tubular acidosis
DOID:14219
Cross References
BioModels Database
BIOMD0000000327
Authored
Jassal, B (2014-08-22)
Reviewed
Broer, S (2015-08-04)
Created
Jassal, B (2014-08-22)
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